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Medrxiv : the Preprint Server for Health Sciences|August 8, 2025
Pangenome discovery of missing autism variantsYang Sui, Jiadong Lin, Michelle D Noyes, et al.Biorxiv : the Preprint Server for Biology|March 22, 2023
Structurally divergent and recurrently mutated regions of primate genomesYafei Mao, William T Harvey, David Porubsky, et al.Biorxiv : the Preprint Server for Biology|June 12, 2025
A haplotype-resolved view of human gene regulationMitchell R Vollger, Elliott G Swanson, Shane J Neph, et al.Nature Biotechnology|July 21, 2020
Nanopore sequencing and the Shasta toolkit enable efficient de novo assembly of eleven human genomesKishwar Shafin, Trevor Pesout, Ryan Lorig-Roach, et al.American Journal of Human Genetics|June 17, 2026
Complete chromosome 21 centromere sequencing of families with Down syndromeF Kumara Mastrorosa, Alessia Daponte, Luciana de Gennaro, et al.Nature Genetics|February 16, 2020
A slipped-CAG DNA-binding small molecule induces trinucleotide-repeat contractions in vivoMasayuki Nakamori, Gagan B Panigrahi, Stella Lanni, et al.Nature|August 23, 2023
Assembly of 43 human Y chromosomes reveals extensive complexity and variationPille Hallast, Peter Ebert, Mark Loftus, et al.Nature|April 8, 2021
The structure, function and evolution of a complete human chromosome 8Glennis A Logsdon, Mitchell R Vollger, PingHsun Hsieh, et al.Cell|March 1, 2024
Structurally divergent and recurrently mutated regions of primate genomesYafei Mao, William T Harvey, David Porubsky, et al.Nature Methods|August 4, 2025
The Platinum Pedigree: a long-read benchmark for genetic variantsZev Kronenberg, Cillian Nolan, David Porubsky, et al.Pageof 23